Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma

Abstract

Purpose: To describe the characteristics of pediatric choroidal neovascular membranes (CNVs) associated with retinochoroidal and optic nerve coloboma using optical coherence tomography (OCT) and their response to treatment.

Design: Retrospective case series.

Methods: Retrospective review of children <16 years of age with CNV and retinochoroidal and optic nerve coloboma from 1995-2015 who underwent OCT imaging using either handheld (Bioptigen, Morrisville, NC) or tabletop OCT (Spectralis; Heidelberg, Carlsbad, CA).

Results: Eight eyes of 8 patients (3 males, 5 females) with a mean age of 4.1 ± 3.9 years (range 6 months-10 years) at diagnosis were included. Mean follow-up was 21.4 ± 12.1 months (range 7-38 months). An optic nerve coloboma was present in 2 eyes and combined optic nerve and retinochoroidal coloboma in 6 eyes. In all eyes, CNVs were located at the temporal margin of the coloboma closest to the macula. Fluorescein angiogram characteristics included staining without leakage suggesting inactivity (n = 6) and leakage (n = 2). OCT characteristics included subretinal fluid (n = 5), intraretinal fluid and cysts (n = 1), and subretinal hyperreflective material (n = 7). Two eyes received intravitreal bevacizumab (range 3-6) injections, one of which also underwent focal peripapillary laser. Both eyes showed improvement in subretinal or intraretinal fluid on OCT. Vision at presentation among those quantified ranged from 20/200 to 20/40 and at final follow-up from 20/400 to 20/30. Genetic or systemic abnormalities were seen in 6 patients.

Conclusions: Association of pediatric CNV occurrence at the temporal margin of retinochoroidal and optic nerve colobomas closest to the fovea has not been established before and careful OCT and angiographic assessment of this region is warranted. The CNV lesions exhibit a varied degree of response to treatment.